title: Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.
abstract: Mowat-Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function. This report is the first to describe the association of MWS with two different asynchronous malignant brain tumors (medulloblastoma and glioblastoma) occurring in a child.
authors.affiliation: Division of Pediatric Oncology, Department of Pediatrics; Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil, elvisvalera@hotmail.com.
authors.forename: Elvis Terci
authors.initials: ET
authors.lastname: Valera
authors.forename: Sabrine Teixeira
authors.initials: ST
authors.lastname: Ferraz
authors.forename: María Sol
authors.initials: MS
authors.lastname: Brassesco
authors.forename: Xiumei
authors.initials: X
authors.lastname: Zhen
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
authors.forename: Antonio Carlos
authors.initials: AC
authors.lastname: dos Santos
authors.forename: Luciano
authors.initials: L
authors.lastname: Neder
authors.forename: Ricardo Santos
authors.initials: RS
authors.lastname: Oliveira
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Scrideli
authors.forename: Luiz Gonzaga
authors.initials: LG
authors.lastname: Tone
mesh_terms: D001932:Brain Neoplasms / Q000150:complications* / Q000473:pathology; D002528:Cerebellar Neoplasms / Q000150:complications / Q000473:pathology; D002675:Child, Preschool; D019066:Facies; D005909:Glioblastoma / Q000150:complications* / Q000473:pathology; D006627:Hirschsprung Disease / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008527:Medulloblastoma / Q000150:complications* / Q000473:pathology; D008831:Microcephaly / Q000150:complications*; D016609:Neoplasms, Second Primary / Q000150:complications* / Q000473:pathology